CNOT7 — 16 ClinVar variants
All ClinVar germline CNOT7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 15 flagged for review →
1 Likely benign · 15 Uncertain significance
Full CNOT7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 15
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors lean, ClinVar uncertain 11
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CNOT7 p.Arg186Gln Uncertain significance Single submitter
- CNOT7 p.Arg32Gln Uncertain significance Single submitter
- CNOT7 p.Asn57Ser Uncertain significance Single submitter
- CNOT7 p.Glu243Gly Uncertain significance Single submitter
- CNOT7 p.His126Gln Uncertain significance Single submitter
- CNOT7 p.Pro175Ser Uncertain significance Single submitter
- CNOT7 p.Thr5Ile Uncertain significance Single submitter
- CNOT7 p.Tyr268Asn Uncertain significance Single submitter
- CNOT7 p.Tyr268Phe Uncertain significance Single submitter
- CNOT7 p.Tyr277Cys Uncertain significance Single submitter
- CNOT7 p.Val30Ile Uncertain significance Single submitter
Predictors split 4
The independent predictors disagree with each other — read with care.
All CNOT7 variants
Likely benign 1
- p.Gln61= Single submitter
Uncertain significance 15
- p.Arg186Gln Single submitter ⚠
- p.Arg32Gln Single submitter ⚠
- p.Asn19Ser Single submitter ⚠
- p.Asn57Ser Single submitter ⚠
- p.Asp7Tyr Single submitter ⚠
- p.Gln210Glu Single submitter ⚠
- p.Glu243Gly Single submitter ⚠
- p.His126Gln Single submitter ⚠
- p.Lys124Arg Single submitter ⚠
- p.Pro175Ser Single submitter ⚠
- p.Thr5Ile Single submitter ⚠
- p.Tyr268Asn Single submitter ⚠
- p.Tyr268Phe Single submitter ⚠
- p.Tyr277Cys Single submitter ⚠
- p.Val30Ile Single submitter ⚠